The UGT8 gene encodes the UDP glycosyltransferase 8A, catalyzing the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the CNS and PNS. This biological function implicates UGT8 as an important gene in oligodendrocyte function. The expression pattern on the Allen Brain Atlas data indicates that this gene is expressed along axonal tracks—this in situ hybridization data is consistent with expression in oligodendrocytes. Schulte and Stoffel (1993) demonstrated that the expression is restricted to oligodendrocyte-containing layers of the cerebrum and cerebellum, showing the same expression distribution in brain as myelin basic protein.
There is a need for characterized human UGT8 promoters for gene expression, for instance in human gene therapy applications. It is in particular useful to identify small promoter elements that are sufficient to drive expression in certain cell types, for instance retinal cells. Such small promoter elements, or “mini-promoters” are particularly useful in certain applications, for instance they are more amenable to insertion into viral vectors used in gene therapy applications.